Nail disorder, nonsyndromic congenital, 9

Preferred Label : Nail disorder, nonsyndromic congenital, 9;

Symbol : NDNC9;

CISMeF acronym : NDNC9;

Type : Phenotype or locus, molecular basis unknown;

Alternative titles and symbols : Nail dysplasia; Anonychia-onycholysis, isolated; ONYCHODYSTROPHY;

Description : Although nails appear normal at birth, dystrophic changes develop within the first decade of life, resulting in onycholysis of fingernails and anonychia of toenails (summary by Rafiq et al., 2004). This disorder is referred to here as nonsyndromic congenital nail disorder-9 (NDNC9). For a list of other nonsyndromic congenital nail disorders and a discussion of genetic heterogeneity, see NDNC1 (161050).;

Inheritance : Autosomal recessive;

Prefixed ID : %614149;

Details

Origin ID

614149;

UMLS CUI

C3279947;

Automatic exact mappings (from CISMeF team)
- Anonychia-onychodystrophy syndrome [ORDO Disease]
- Nail dystrophy [HPO term]
Currated CISMeF NLP mapping
- Idiopathic trachyonychia [ORDO Disease]
- Nail dysplasia [HPO term]
- Nail dystrophy, not otherwise specified [ICD-11 Subcategory]
- Onychodystrophy [PASCAL descriptor]
- Onychodystrophy [NCIt concept]
- Onychodystrophy [MedDRA LLT]
- Twenty-Nail dystrophy [MeSH concept]
- nonsyndromic congenital nail disorder 9 [DO Concept]
- onychodystrophy [Disease (Nov.)]
DO Cross reference
- nonsyndromic congenital nail disorder 9 [DO Concept]
False automatic mappings
- Dystrophia unguium (disorder) [SNOMED CT concept]
HPO term(s)
- Absent toenail [HPO term]
- Autosomal recessive inheritance [HPO term]
- Onycholysis of distal fingernails [HPO term]
ORDO concept(s)
- Anonychia-onychodystrophy syndrome [ORDO Disease]
- Isolated congenital anonychia [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- nonsyndromic congenital nail disorder 9 [DO Concept]

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